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Displaying 11 results.
    • Speech
    Transient neonatal polyuria and renal failure: New features of MEGDEL syndrome
    Paquay, Stéphanie[UCL] Harbulot, Carole Dorboz, Imen Pichard, Samia Bourillon, Agnès Benoist, Jean-François Jardel, Claude Ogier de Baulny, Hélène Boespflug-Tanguy, Odile Schiff, Manuel (2014) Society for the Study of Inborn Errors of Metabolism — Innsbruck, Austria
    • Journal article
    Transient neonatal renal failure and massive polyuria in MEGDEL syndrome.
    Harbulot, Carole Paquay, Stéphanie[UCL] Dorboz, Imen Pichard, Samia Bourillon, Agnès Benoist, Jean-François Jardel, Claude Ogier de Baulny, Hélène Boespflug-Tanguy, Odile Schiff, Manuel (2016) Molecular Genetics and Metabolism Reports — Vol. 7, p. 8-10 (2016)
    • Journal article
    Mitochondrial acetoacetyl-CoA thiolase deficiency: basal ganglia impairment may occur independently of ketoacidosis.
    Paquay, Stéphanie[UCL] Bourillon, Agnès Pichard, Samia Benoist, Jean-François de Lonlay, Pascale Dobbelaere, Dries Fouilhoux, Alain Guffon, Nathalie Rouvet, Isabelle Labarthe, François Mention, Karine Touati, Guy Valayannopoulos, Vassili Ogier de Baulny, Hélène Elmaleh-Bergès, Monique Acquaviva-Bourdain, Cécile Vianey-Saban, Christine Schiff, Manuel (2017) Journal of Inherited Metabolic Disease — Vol. 40, no.3, p. 415-422 (2017)
    • Journal article
    Genetic screening in thrombotic microangiopathy: a plea for methylmalonic aciduria with cobalamine C deficiency detection.
    Rafat, Cédric Doreille, Alice Dancer, Marine Wérion, Alexis[UCL] Benoist, Jean-François Raymond, Laure Mesnard, Laurent (2023) Clinical kidney journal — Vol. 16, no.11, p. 2299-2301 (2023)
    • Speech
    Secondary haemophagocytic lymphohistiocytosis (HLH) and posterior reversible encephalopathy syndrome (PRES) in a patient with B12-responsive late-onset methylmalonic acidemia
    Paviolo, Marina Paquay, Stéphanie[UCL] Pichard, Samia Imbard, Apolline Sachs, Philippe Benoist, Jean-François Schiff, Manuel (2015) Society for the Study of Inborn Errors of Metbolism — Lyon, France
    • Speech
    Argininosuccinic aciduria: from identification to management of paucisymptomatic late onset forms
    Paquay, Stéphanie[UCL] Desnous, Béatrice Paviolo, Marina Imbard, Apolline Pichard, Samia Benoist, Jean-François Schiff, Manuel (2016) Society for the Study of Inborn Errors of Metabolism — Rome, Italy
    • Speech
    Argininosuccinic aciduria: from identification to management of paucisymptomatic late onset forms
    Paquay, Stéphanie[UCL] Desnous, Béatrice Paviolo, Marina Imbard, Apolline Pichard, Samia Benoist, Jean-François Schiff, Manuel (2015) European Society of Pediatric Neurology — Brussels
    • Speech
    Unusual isoleucine concentration kinetic in the follow-up of 2 patients affected by maple syrup urine disease
    Imbard, Apolline Pichard, Samia Paquay, Stéphanie[UCL] Paviolo, Marina Rigal, Odile Acquaviva, Cécile Janvier, Pauline Greneche, Marie-Odile Francois, Laurent Benoist, Jean-François Schiff, Manuel (2015) Society for the Study fo Inborn Errors of Metabolism — Lyon, France
    • Journal article
    Influence of early identification and therapy on long-term outcomes in early-onset MTHFR deficiency.
    Yverneau, Mathilde Leroux, Stéphanie Imbard, Apolline Gleich, Florian Arion, Alina Moreau, Caroline Nassogne, Marie-Cécile[UCL] Szymanowski, Marie Tardieu, Marine Touati, Guy Bueno, María Chapman, Kimberly A Chien, Yin-Hsiu Huemer, Martina Ješina, Pavel Janssen, Mirian C H Kölker, Stefan Kožich, Viktor Lavigne, Christian Lund, Allan Meldgaard Mochel, Fanny Morris, Andrew Pons, Mónica Ruiz Porras-Hurtado, Gloria Liliana Benoist, Jean-François Damaj, Léna Schiff, Manuel E-HOD Consortium (2022) Journal of inherited metabolic disease — Vol. 45, no.4, p. 848-861 (2022)
    • Journal article
    SLC13A3 variants cause acute reversible leukoencephalopathy and α-ketoglutarate accumulation.
    Dewulf, Joseph P.[UCL] Wiame, Elsa[UCL] Dorboz, Imen Elmaleh-Bergès, Monique Imbard, Apolline Dumitriu, Dana Loana[UCL] Rak, Malgorzata Bourillon, Agnès Helaers, Raphaël[UCL] Malla, Alisha Renaldo, Florence Boespflug-Tanguy, Odile Vincent, Marie-Françoise[UCL] Benoist, Jean-François Wevers, Ron A Schlessinger, Avner Van Schaftingen, Emile[UCL] Nassogne, Marie-Cécile[UCL] Schiff, Manuel (2019) Annals of neurology — Vol. 85, no. 3, p. 385-395 (2019)
    • Speech
    Secondary brain creatine deficiency may lead to diagnosis of ornithine aminotransferase (OAT) deficiency
    Paviolo, Marina Germanaud, David Paquay, Stéphanie[UCL] Pichard, Samia Imbard, Apolline Bui Quoc, Emmanuel Benoist, Jean-François Schiff, Manuel (2015) Society for the Study of Inborn Errors of Metabolism — Lyon, France